Kloepfer syndrome 6

General: Rare autosomal recessive disease; manifestations at age 2 months; death between ages 21 and 30 years.

Ocular: Progressive loss of vision to complete blindness associated with progressive dementia.

Clinical: Severe blistering in sunlight; no increase in weight and height after erythema subsides at age 5 to 6 years; mental age does not progress beyond the level of imbeciles; progressive degenerative dementia occurs during or immediately after adolescence.

Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

Kloepfer HW. Progress report on study of a type of progressive juvenile dementia with oligophrenia and erythema. In: Proceedings of the 10th International Congress of Genetics, Vol. II, Montreal, August 20-27, 1958. Toronto: University of Toronto Press, 1958:146.